rs1800450
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.6 | mannose binding deficiency but of low clinical importance |
| (A;G) | 1.1 | carrier of mannose binding deficiency but of low clinical importance |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 52771475 |
| Gene | MBL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800450 |
| dbSNP (classic) | rs1800450 |
| ClinGen | rs1800450 |
| ebi | rs1800450 |
| HLI | rs1800450 |
| Exac | rs1800450 |
| Gnomad | rs1800450 |
| Varsome | rs1800450 |
| LitVar | rs1800450 |
| Map | rs1800450 |
| PheGenI | rs1800450 |
| Biobank | rs1800450 |
| 1000 genomes | rs1800450 |
| hgdp | rs1800450 |
| ensembl | rs1800450 |
| geneview | rs1800450 |
| scholar | rs1800450 |
| rs1800450 | |
| pharmgkb | rs1800450 |
| gwascentral | rs1800450 |
| openSNP | rs1800450 |
| 23andMe | rs1800450 |
| SNPshot | rs1800450 |
| SNPdbe | rs1800450 |
| MSV3d | rs1800450 |
| GWAS Ctlg | rs1800450 |
| GMAF | 0.1212 |
| Max Magnitude | 1.6 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17898783] pulmonary morbidity in preterm infants.
related to non-Hodgkin's lymphoma
[PMID 20522590
] Functional Variants in MBL2 are Associated with Type 2 diabetes and Pre-diabetic Traits in Pima Indians and the Old Order Amish
[PMID 22340886] [Association between mannose-binding-lectin gene and type 2 diabetic patients in Chinese population living in the northern areas of China]
[PMID 22363494] Mannose-Binding Lectin 2 Polymorphisms Do Not Influence Frequency or Type of Infection in Adults with Chemotherapy Induced Neutropaenia
| ClinVar | |
|---|---|
| Risk | Rs1800450(A;A) |
| Alt | Rs1800450(A;A) |
| Reference | Rs1800450(G;G) |
| Significance | Pathogenic |
| Disease | Mannose-binding protein deficiency |
| Variation | info |
| Gene | MBL2 |
| CLNDBN | Mannose-binding protein deficiency |
| Reversed | 1 |
| HGVS | NC_000010.10:g.54531235C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015424.23, |
[PMID 17366837] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.
[PMID 18091754] Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10.
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 18452612] MBL2 and hepatitis C virus infection among injection drug users.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19366862] Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.
[PMID 19432958] Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20042521] Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
[PMID 20465856] Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.
[PMID 21211797] Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin.
[PMID 22183303] The association between the mannose-binding lectin codon 54 polymorphism and systemic lupus erythematosus: a meta-analysis update.
[PMID 22417159] DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
[PMID 22994203] MBL2 gene variation affecting serum MBL is associated with prosthetic joint infection in Czech patients after total joint arthroplasty
[PMID 22820623] Association of MIF-173G/C and MBL2 codon 54 gene polymorphisms with rheumatoid arthritis: a meta-analysis.
[PMID 22848725] Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.
[PMID 23251429] Inflammation and immune-related candidate gene associations with acute lung injury susceptibility and severity: a validation study.
[PMID 24952212] Age-dependent Association of Mannose-Binding Lectin Polymorphisms with the Development of Pulmonary Tuberculosis in Viet Nam
[PMID 25902400] Polymorphisms in the inflammatory pathway genes and the risk of preeclampsia in Sinhalese women
[PMID 31141020] Association between MBL2 haplotypes and dengue severity in children from Rio de Janeiro, Brazil.
